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Multiple subtypes of this disease have been described; however, the perinatal\u2010lethal form is extremely rare and challenging to diagnose. We present a case of a newborn girl with ichthyosis, petechiae, and arthrogryposis, later found to be homozygous for a pathogenic variant of the glucocerebrosidase gene. This case highlights the potential role of dermatologists in the recognition of this rare disease.<\/jats:p>","DOI":"10.1111\/pde.15169","type":"journal-article","created":{"date-parts":[[2022,11,5]],"date-time":"2022-11-05T12:11:34Z","timestamp":1667650294000},"page":"352-354","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Ichthyosis, petechiae, and arthrogryposis in a neonate"],"prefix":"10.1111","volume":"40","author":[{"given":"Courtney N.","family":"Haller","sequence":"first","affiliation":[{"name":"Division of Dermatology, Department of Internal Medicine Dell Medical School  Austin Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"Paladichuk","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Internal Medicine Dell Medical School  Austin Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine A.","family":"Ziats","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics Dell Medical School  Austin Texas USA"},{"name":"Dell Children's Medical Center  Austin Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine A.","family":"Buchanan","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics Dell Medical School  Austin Texas USA"},{"name":"Dell Children's Medical Center  Austin Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia Z.","family":"Diaz","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Internal Medicine Dell Medical School  Austin Texas USA"},{"name":"Dell Children's Medical Center  Austin Texas USA"},{"name":"Division of Pediatric Dermatology, Department of Pediatrics Dell Medical School  Austin Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,11,5]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1589760"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/10245332.2016.1240391"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18020441"},{"key":"e_1_2_5_5_1","unstructured":"Conditions Screened by State. 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Accessed July 28 2022.https:\/\/rarediseases.org\/gard-rare-disease\/gaucher-disease-perinatal-lethal\/"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm9030736"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.09.008"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199601000-00020"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.14873"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.14735"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.12733"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00811.x"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-001-0859-7"},{"key":"e_1_2_5_21_1","article-title":"Hematopoietic stem cell transplantation for Gaucher disease","volume":"10","author":"Somaraju UR","year":"2017","journal-title":"Cochrane Database Syst Rev"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2014.313"},{"key":"e_1_2_5_23_1","unstructured":"National Gaucher Foundation.National Gaucher Foundation. 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